Canonical Allele Identifier: CA1750992884

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882769_147882770delinsAG , CM000669.2:g.147882769_147882770delinsAG	GRCh38
NC_000007.13:g.147579861_147579862delinsAG , CM000669.1:g.147579861_147579862delinsAG	GRCh37
NC_000007.12:g.147210794_147210795delinsAG	NCBI36
NG_007092.2:g.1771409_1771410delinsAG
NG_007092.3:g.1771769_1771770delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20796_2099-20795delinsAG MANE Select	ENSP00000354778.3:n.2099-20796_2099-20795delinsAG
ENST00000636870.1:n.1961-20796_1961-20795delinsAG
ENST00000637825.1:n.1582-20796_1582-20795delinsAG
ENST00000361727.7:c.2099-20796_2099-20795delinsAG	ENSP00000354778.3:n.2099-20796_2099-20795delinsAG
ENST00000455301.2:n.34-20796_34-20795delinsAG
ENST00000627772.2:n.272-20796_272-20795delinsAG
NM_014141.5:c.2099-20796_2099-20795delinsAG	NP_054860.1:n.2099-20796_2099-20795delinsAG
XM_006715919.1:c.587-20796_587-20795delinsAG	XP_006715982.1:n.587-20796_587-20795delinsAG
NM_014141.6:c.2099-20796_2099-20795delinsAG MANE Select	NP_054860.1:n.2099-20796_2099-20795delinsAG